Cat eye syndrome. Partial trisomy 22 due to translocation in the mother
Bofinger, M.K.; Soukup, S.W.
American Journal of Diseases of Children 131(8): 893-897
1977
ISSN/ISBN: 0002-922X PMID: 888806 Document Number: 116229
An infant girl with cat eye syndrome with 47,XX,+22q- was described. A balanced translocation, 46,XX,t(11;22), was found by banding studies in the mother. The clinical and cytogenetic correlations disclosed by a review of sporadic and familial cases illustrate the heterogeneity of the syndrome and the challenge to genetic counseling.
Document emailed within 1 workday
Related Documents
Tüysüz, B.; Hacihanefioglu, S.; Silahtaroglu, A.; Yilmaz, S.; Deviren, A.; Cenani, A. 2000: Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation Genetic Counseling 11(4): 355-361Madokoro, H.; Ohdo, S.; Sonoda, T.; Kawaguchi, K.; Ohba, K. 1988: Partial trisomy for 19q due to paternal 17/19 reciprocal translocation Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 33(1): 61-65
Gagnon, J.A.; Richer, C.L.; Lemieux, N.; Gauthier-Chouinard, M. 1984: De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation Annales de Genetique 27(1): 33-37
Paoloni-Giacobino, A.; Bottani, A.; Dahoun, S.P. 1999: Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation Annales de Genetique 42(3): 166-169
Rosenmann, A.; Isacson, M.; Cohen, R.; Segal, M.; Cohen, M.M. 1978: Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11) Annales de Genetique 21(1): 60-64
Cetin, Z.; Mihci, E.; Keser, I.; Karaali, K.; Berker, S.; Luleci, G. 2012: Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation Genetic Counseling 23(2): 239-247
Witters, I.; Moerman, P.; Fryns, J.P. 2002: Maternal serum positive triple test screening in a fetus with partial distal trisomy 7p associated with maternal 7p;18p translocation Genetic Counseling 13(1): 65-68
Krishna Murthy, D.S.; Patel, Z.M.; Khanna, S.A.; Danthi, V.; Ambani, L.M. 1981: Frequency of trisomy 21, translocation, mosaicism and familial cases fo Down's syndrome in Bombay Indian Journal of Medical Research 73: 218-222
Bailleul-Forestier, I.; Fryns, J.P. 2006: Oligodontia in partial trisomy 9q syndrome Genetic Counseling 17(4): 481-482
Balci, S.; Engiz, O.; Yilmaz, Z.; Baltaci, V. 2006: Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22) Genetic Counseling 17(3): 281-289
Karcaaltincaba, D.; Ceylaner, S.; Ceylaner, G.; Dalkilic, S.; Karli-Oguz, K.; Kandemir, O. 2010: Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies Genetic Counseling 21(1): 19-24
El-Ruby, M.; Hemly, N.A.; Zaki, M.S. 2007: Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome Genetic Counseling 18(2): 217-226
Turleau, C.; Grouchy, J.; Bocquentin, F.; Roubin, M.; Colin, F.C. 1975: Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21) Annales de Genetique 18(1): 41-44
Ausems, M.G.; Van Spijker, H.G.; Dijkhuis, H.J.; Swanenburg De Veye, H.F.; Bijlsma, J.B. 1996: Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development Genetic Counseling 7(1): 61-65
Say, B.; Guzoglu, N.; Uras, N.; Candemir, Z.; Akin, I.; Dilmen, U. 2013: Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report Genetic Counseling 24(4): 387-391
Archidiacono, N.; Rocchi, M. 1979: Trisomy 20p due to balanced maternal translocation t(3;20) Pathologica 71(1013): 366
Funderburk, S.J.; Sparkes, R.S.; Sparkes, M.C. 1983: Trisomy 20p due to a paternal reciprocal translocation Annales de Genetique 26(2): 94-97
Velasco, F.; Clusellas, N.; Godo, R.M.; Antich, J. 1984: Distal trisomy 14q caused by a paternal translocation (6;14) Anales Espanoles de Pediatria 21(7): 681-687
Tanaka, N.; Ikeuchi, T.; Yara, I.; Kitahara, K. 1977: Trisomy 9p due to a maternal complex translocation involving chromosomes 4, 6 and 9 Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 21(4): 261-268
Belaisch, G.; Despres, P.; Plainfosse, B.; Rethore, O.; Emerit, I.; Loewe-Lyon, S.; Lejeune, J.; Seringe, P. 1971: Trisomy due to transmitted translocation t(13 q , 14 q ). Estimation of recurrence risks Archives Francaises de Pediatrie 28(8): 865-874